Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

10 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.
van Steensel MA, Vreeburg M, Engelen J, Ghesquiere S, Stegmann AP, Herbergs J, van Lent J, Smeets B, Vles JH. van Steensel MA, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2944-9. doi: 10.1002/ajmg.a.32473. Am J Med Genet A. 2008. PMID: 18925676
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Van Opstal D, van Maarle MC, Lichtenbelt K, Weiss MM, Schuring-Blom H, Bhola SL, Hoffer MJV, Huijsdens-van Amsterdam K, Macville MV, Kooper AJA, Faas BHW, Govaerts L, Tan-Sindhunata GM, den Hollander N, Feenstra I, Galjaard RH, Oepkes D, Ghesquiere S, Brouwer RWW, Beulen L, Bollen S, Elferink MG, Straver R, Henneman L, Page-Christiaens GC, Sistermans EA. Van Opstal D, et al. Genet Med. 2018 Apr;20(5):480-485. doi: 10.1038/gim.2017.132. Epub 2017 Sep 28. Genet Med. 2018. PMID: 29121006 Free PMC article.
Improving the diagnostic yield for filaggrin: Concealed mutations in the Dutch population.
van Leersum FS, Nagtzaam IF, van Oosterhoud CN, Ghesquiere SAI, Brandts RRHFJ, Gostyński A, Steijlen PM, van Geel M. van Leersum FS, et al. Among authors: ghesquiere sai. J Allergy Clin Immunol. 2020 Jun;145(6):1704-1706.e2. doi: 10.1016/j.jaci.2020.01.033. Epub 2020 Feb 1. J Allergy Clin Immunol. 2020. PMID: 32018027 No abstract available.
Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study.
Heesterbeek CJ, Tjan-Heijnen VCG, Heimovaara JH, Lenaerts L, Lok C, Vriens IJH, Van Opstal D, Boon EMJ, Sie D, de Die-Smulders CEM, Amant F, Macville MVE; Dutch NIPT Consortium. Heesterbeek CJ, et al. Lancet Reg Health Eur. 2024 Aug 7;45:101024. doi: 10.1016/j.lanepe.2024.101024. eCollection 2024 Oct. Lancet Reg Health Eur. 2024. PMID: 39220433 Free PMC article.
Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing.
Faas BHW, Astuti G, Melchers WJG, Reuss A, Gilissen C, Macville MVE, Ghesquiere SAI, Houben LMH, Srebniak MI, Geeven G, Rahamat-Langendoen JC, Sistermans EA, Linthorst J. Faas BHW, et al. Among authors: ghesquiere sai. EBioMedicine. 2024 Feb;100:104983. doi: 10.1016/j.ebiom.2024.104983. Epub 2024 Feb 2. EBioMedicine. 2024. PMID: 38365322 Free PMC article.